Inherited 2q23.1 microdeletions involving the MBD5 locus.
Shereen TadrosRubin WangJonathan J WatersChristine WatermanAmanda L CollinsMorag N CollinsonJoo W AhnDragana JosifovaRavi ChetanAjith KumarPublished in: Molecular genetics & genomic medicine (2017)
Inherited forms of MBD5 deletions are rare, but do occur, especially in a mosaic form. The phenotypic spectrum of MAND may be wider than previously thought.
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